Endocrine Abstracts

Introduction

Prader-Willi syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Despite PWS present manifestations from birth, affected individuals can remain undiagnosed until adulthood.

Clinical case

Woman, 40 years old, with cognitive impairment, referred to endocrinology due to morbid obesity (BMI 44.5 Kg/m²). Despite being followed in a Nutrition consultation, she was unable to comply with the food plan, due to insatiable appetite and food voracity that was difficult to control. She had a previous diagnosis of hypothyroidism and was under levothyroxine (LT4) 100 µg id. She reported menarche after the age of 20 and oligomenorrhea. She also had occasional episodes of asthenia, lethargy, and hypothermia, with no defined etiology, especially when she had respiratory infections, in winter. A previous brain CT revealed an empty sella. On physical examination, she had short stature (1.51 m), characteristic facies (almond-shaped eyes, thin upper lip, lip inversion), small hands and centripetal obesity Analytically, she had TSH 1.24 (N 0.358–3.74) µUI/ml, free-T4 1.42 (N 0.76–1.46) ng/dl, under LT4, negative anti-TPO and anti-Tg antibodies, ACTH 23.0 pg/ml, morning cortisol 5.69 µg/dl, PRL 17.05 (N 2.8–26.0) ng/ml, IGF-1 52 (N 76–271) ng/ml), estradiol 215 pmol/l, LH 2.55 mUI/ml, FSH 3.02 mUI/ml and HbA1c 5.3%. Pituitary MRI showed a small pituitary gland. The diagnosis of hypopituitarism was established, and she started prednisolone 5 mg/day (in addition to LT4). After the introduction of the glucocorticoid, the patient did not have episodes of lethargy and hypothermia again and her general condition improved significantly. A genetic study was carried out by suspicion of PWS, which was confirmed. Along with a progressive weight gain, she developed type 2 Diabetes mellitus, being treated with Liraglutide 1.2 mg/day and metformin 850 mg BID, with good metabolic control.

Conclusion

SPW involves the hypothalamic-pituitary axis and is responsible for multiple endocrinopathies. The different syndrome components can appear progressively throughout life, delaying the diagnosis. In the presence of an obese patient, with food voracity since childhood and cognitive impairment, it is important to suspect of PWS and exclude the presence of hypopituitarism, to establish an appropriate therapeutic plan.